Publications:

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYOM1: 1847G>A; Arg616His

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomson, Kate L KL; Ormondroyd, Elizabeth E; Harper, Andrew R AR; Dent, Tim T; McGuire, Karen K; Baksi, John J; Blair, Edward E; Brennan, Paul P; Buchan, Rachel R; Bueser, Teofila T; Campbell, Carolyn C; Carr-White, Gerald G; Cook, Stuart S; Daniels, Matthew M; Deevi, Sri V V SVV; Goodship, Judith J; Hayesmoore, Jesse B G JBG; Henderson, Alex A; Lamb, Teresa T; Prasad, Sanjay S; Rayner-Matthews, Paula P; Robert, Leema L; Sneddon, Linda L; Stark, Hannah H; Walsh, Roddy R; Ware, James S JS; Farrall, Martin M; Watkins, Hugh C HC; ,

Publication Date: 2019-07

Variant appearance in text: MYOM1: 1847G>A; Arg616His

PubMed Link: 30531895

Variant Present in the following documents:

• 41436_2018_375_MOESM1_ESM.xlsx, sheet 14

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